Research of DNA methylation in breast cancer

doi:10.3969/j.issn.1009-976X.2020.06.022

Abstract

Abstract: The molecular mechanism of breast cancer remains unclear. Studies have shown that abnormal gene expression caused by Epigenetics changes is also an important reason for the occurrence and development of breast cancer. Epigenetic changes are heritable changes in gene expression without changes in nucleotide sequence, which including DNA methylation, histone acetylation, chromatin remodeling, genomic imprinting, non-coding RNA, and so on. DNA methylation of breast is a common molecular event with unique DNA methylation characteristics. Previous studies have found that DNA methylation can be used as a molecular marker for early diagnosis, classification, monitoring of drug treatment effect and prognosis of breast cancer. This article will review the research progress of DNA methylation in breast cancer.

Key words: breast cancer, DNA methylation

摘要： 乳腺癌的发生的分子机制仍然不明确。研究显示表观遗传学改变（Epigenetics）所导致的基因表达异常也是乳腺癌发生、发展的重要原因。表观遗传学改变是基因的核苷酸序列不发生改变的情况下基因表达的可遗传的变化,包括DNA甲基化、组蛋白乙酰化、染色质重塑、基因组印记以及非编码RNA等。乳腺腺的DNA甲基化是常见的分子事件,具有独特的DNA甲基化特征,既往的研究发现DNA甲基化可以作为乳腺癌早期诊断、分型、监测药物治疗效果和预后的分子标志物。本文将对DNA甲基化在乳腺癌的研究进展进行综述。

关键词: 乳腺癌, DNA甲基化

CLC Number:

R737.9

GUO Yu-juan, FENG Ying-ye, WANG Yong-nan, YAN Shan-shan. Research of DNA methylation in breast cancer[J]. Lingnan Modern Clinics in Surgery, 2020, 20(06): 796-800.

郭玉娟, 冯映业, 王永南, 严珊珊. 乳腺癌基因甲基化的研究进展[J]. 岭南现代临床外科, 2020, 20(06): 796-800.

References

[1] Fan L, Strasser-Weippl K, Li JJ, et al.Breast cancer in China[J]. Lancet Oncol, 2014, 15(7): e279-289.
[2] Suzuki MM, Bird A.DNA methylation landscapes: provocative insights from epigenomics[J]. Nat Rev Genet, 2008, 9(6): 465-476.
[3] Deaton AM, Bird A.CpG islands and the regulation of transcription[J]. Genes Dev, 2011, 25(10): 1010-1022.
[4] 杨林林, 蒋涛, 隋亚鑫, 等. DNA 甲基化检测技术[J]. 标记免疫分析与临床, 2020, 27(5): 898-904.
[5] Li M, Wang C, Yu B, et al. Diagnostic value of RASSF1A methylation for breast cancer: a meta-analysis [J]. Biosci Rep, 2019, 39(6): BSR20190923.
[6] Tang Q, Cheng J, Cao X, et al.Blood-based DNA methylation as biomarker for breast cancer: a systematic review[J]. Clin Epigenetics, 2016, 8: 115.
[7] Radpour R, Barekati Z, Kohler C, et al.Hypermethylation of tumor suppressor genes involved in critical regulatory pathways for developing a blood-based test in breast cancer[J]. PLoS One, 2011, 6(1): e16080.
[8] Huang KT, Mikeska T, Li J, et al.Assessment of DNA methylation profiling and copy number variation as indications of clonal relationship in ipsilateral and contralateral breast cancers to distinguish recurrent breast cancer from a second primary tumour[J]. BMC Cancer, 2015, 15: 669.
[9] Dedeurwaerder S, Fumagalli D, Fuks F.Unravelling the epigenomic dimension of breast cancers[J]. Curr Opin Oncol, 2011, 23(6): 559-565.
[10] Absmaier M, Napieralski R, Schuster T, et al.PITX2 DNA-methylation predicts response to anthracycline-based adjuvant chemotherapy in triple-negative breast cancer patients[J]. Int J Oncol, 2018, 52(3): 755-767.
[11] Foedermayr M, Sebesta M, Rudas M, et al.BRCA-1 methylation and TP53 mutation in triple-negative breast cancer patients without pathological complete response to taxane-based neoadjuvant chemotherapy[J]. Cancer Chemother Pharmacol, 2014, 73(4): 771-778.
[12] Watanabe Y, Maeda I, Oikawa R, et al.Aberrant DNA methylation status of DNA repair genes in breast cancer treated with neoadjuvant chemotherapy[J]. Genes Cells, 2013, 18(12): 1120-1130.
[13] Maier S, Nimmrich I, Koenig T, et al.DNA-methylation of the homeodomain transcription factor PITX2 reliably predicts risk of distant disease recurrence in tamoxifen-treated, node-negative breast cancer patients--Technical and clinical validation in a multi-centre setting in collaboration with the European Organisation for Research and Treatment of Cancer (EORTC) PathoBiology group[J]. Eur J Cancer, 2007, 43(11): 1679-1686.
[14] Harbeck N, Nimmrich I, Hartmann A, et al.Multicenter study using paraffin-embedded tumor tissue testing PITX2 DNA methylation as a marker for outcome prediction in tamoxifen-treated, node-negative breast cancer patients[J]. J Clin Oncol, 2008, 26(31): 5036-5042.
[15] Yamaguchi T, Mukai H, Yamashita S, et al.Comprehensive DNA Methylation and Extensive Mutation Analyses of HER2-Positive Breast Cancer[J]. Oncology, 2015, 88(6): 377-384.
[16] Palomeras S, Diaz-Lagares ?, Vi?as G, et al. Epigenetic silencing of TGFBI confers resistance to trastuzumab in human breast cancer[J]. Breast Cancer Res, 2019, 21(1): 79.
[17] Ishihara H, Yamashita S, Fujii S, et al.DNA methylation marker to estimate the breast cancer cell fraction in DNA samples[J]. Med Oncol, 2018, 35(11): 147.
[18] Györffy B, Bottai G, Fleischer T, et al.Aberrant DNA methylation impacts gene expression and prognosis in breast cancer subtypes[J]. Int J Cancer, 2016, 138(1): 87-97.
[19] Fleischer T, Frigessi A, Johnson KC, et al.Genome-wide DNA methylation profiles in progression to in situ and invasive carcinoma of the breast with impact on gene transcription and prognosis[J]. Genome Biol, 2014, 15(8): 435.
[20] Oltra SS, Peña-Chilet M, Vidal-Tomas V, et al.Methylation deregulation of miRNA promoters identifies miR124-2 as a survival biomarker in Breast Cancer in very young women[J]. Sci Rep, 2018, 8(1): 14373.
[21] Widschwendter M, Evans I, Jones A, et al.Methylation patterns in serum DNA for early identification of disseminated breast cancer[J]. Genome Med, 2017, 9(1):115.
[22] Shen Y, Wang Z, Loo LW, et al.LINC00472 expression is regulated by promoter methylation and associated with disease-free survival in patients with grade 2 breast cancer[J]. Breast Cancer Res Treat, 2015, 154(3): 473-482.